A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446134



Internal ID224463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114366072..114835483hg38UCSC Ensembl
chr2:115123649..115593060hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38469412
hg19469412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919746
Samples
Known GenesDPP10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446134
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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